Variant report

Variant	rs4148966
Chromosome Location	chr18:9120265-9120266
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9102673..9105307-chr18:9120129..9121926,2	MCF-7	breast:
2	chr18:9115871..9117549-chr18:9120095..9121840,2	MCF-7	breast:
3	chr18:9102444..9104093-chr18:9117938..9120762,2	MCF-7	breast:
4	chr18:9118013..9119695-chr18:9119782..9122411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11660603	0.80[ASN][1000 genomes]
rs11661711	0.92[ASN][1000 genomes]
rs12607307	0.86[ASN][1000 genomes]
rs1472944	0.93[ASN][1000 genomes]
rs1893198	1.00[CEU][hapmap]
rs4078337	0.86[ASN][1000 genomes]
rs4148967	1.00[ASN][1000 genomes]
rs4797356	0.86[ASN][1000 genomes]
rs4797361	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs4798772	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4798776	0.86[ASN][1000 genomes]
rs4798778	0.89[ASN][1000 genomes]
rs4798786	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs56046470	0.89[ASN][1000 genomes]
rs6417048	0.86[ASN][1000 genomes]
rs6506649	1.00[CEU][hapmap]
rs7504137	0.94[ASN][1000 genomes]
rs7504603	0.90[ASN][1000 genomes]
rs7505120	0.86[ASN][1000 genomes]
rs7506291	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs8089693	0.94[CEU][hapmap];0.87[YRI][hapmap]
rs977581	0.93[ASN][1000 genomes]
rs9945360	0.86[ASN][1000 genomes]
rs9946695	0.94[CEU][hapmap];0.87[YRI][hapmap]
rs9947027	0.87[ASN][1000 genomes]
rs9952006	0.94[ASN][1000 genomes]
rs9966631	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
6	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
7	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
9	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
12	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
13	chr18:9114000-9121000	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:9114000-9123200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:9114000-9123400	Weak transcription	Fetal Intestine Small	intestine
16	chr18:9114000-9127400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:9114000-9130800	Weak transcription	Ovary	ovary
18	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:9115800-9134800	Strong transcription	Dnd41	blood
20	chr18:9116600-9120400	Enhancers	Brain Substantia Nigra	brain
21	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
22	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
23	chr18:9117400-9123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:9117400-9125800	Weak transcription	Right Atrium	heart
25	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
26	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
28	chr18:9117400-9135800	Weak transcription	Gastric	stomach
29	chr18:9117600-9123400	Weak transcription	Left Ventricle	heart
30	chr18:9117600-9123400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:9117600-9127400	Weak transcription	Spleen	Spleen
32	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
34	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
35	chr18:9117800-9122400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr18:9117800-9124000	Strong transcription	HepG2	liver
37	chr18:9117800-9127200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:9117800-9128800	Weak transcription	Lung	lung
39	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
40	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
43	chr18:9118200-9121400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
44	chr18:9118200-9124400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr18:9118400-9120400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr18:9118400-9121400	Genic enhancers	Liver	Liver
49	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr18:9118600-9120400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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